Frameshift mutation in exon 17 of PTCH1 gene in Nevoid basal cell carcinoma syndrome: A case report

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. In majority of the cases, the presence of multiple and recurrent jaw cysts especially during the first two decades of life is one of the first symptoms of this syndrome. We present here a case of 14-year-old female patient who reported with a chief complaint of facial swelling for 3 weeks. The radiographs revealed multiple cysts in maxilla and mandible. Incisional biopsy of the lesions was done and the histopathologic features were suggestive of odontogenic keratocyst. Further investigations revealed the presence of falx cerebri calcifications and multiple nevi on palms and feet. Genetic study was done to confirm the diagnosis of NBCCS, which showed mutations in PTCH gene. This case stresses the importance of genetic study in suspected cases of NBCCS especially in young patients of nonsyndromic parents.